ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2631C>T (p.Thr877=)

gnomAD frequency: 0.00011  dbSNP: rs369179562
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875022 SCV001017288 likely benign Brody myopathy 2024-10-29 criteria provided, single submitter clinical testing

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